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Hi there

I am responding to your note about your son having other issues besides BPES. My

daughter, Kirsten, now 7 yrs old was born with a cardiac defect, delayed speech

due to palate problems, is slightly hypotonic and her gross motor skills are

about 9 months behind average. Her photos are under Kirsten Parsons.

Kirsten has been very lucky. The hole in her heart closed spontaneously. She had

surgery to her palate when she was 4 yrs old, it took years to diagnose why her

speech was so delayed. She used to use makaton sign language, but since her

surgery to her palate and loads and loads of speech therapy, she is now easily

understood. Her gross motor skills are still behind, but she always eventually

does what her friends do e.g hop on 1 leg, ride a bike. She attends a normal

school and is doing well.

Get as much information and advice about your son's issues as you can. Go for

second opinions if you need to, it will be a slow process but keep at it.

I was always told that Kirsten's problems were not associated with her BPES. Her

chromosome tests done in Belgium showed a deletion at FOXL2, where as the

majority of people with BPES apparently have a mutation. She has no other

chromosome abnormalities as far as we have tested.

I hope my story has been useful to you. Your son may be completely different to

my daughter, but I can relate to your concerns as a mum. All the best.

Regards

(Colchester, UK)

>

>

> From: Harvey <happyappykd>

> Subject: Re: blepharophimosis my daughter

> blepharophimosis

> Date: Friday, 8 January, 2010, 5:13

>

>

>  

>

>

>

> Hi ,

> Before my daughter, Paige, had her surgeries I asked the nurse if we could

could take a tour of the clinic.  The nurse showed us the pre-op rooms, the

special " pajamas " she would wear for her surgery, the mask she would wear to

help her fall asleep (and the stickers she could have to decorate it), the juice

and crackers she could have when she woke up, and the post-op room where we

would be with her when she woke up.  She explained exactly what would

happen and that she would sleep through the entire procedure.  Paige was 4

when she had her surgeries and she understood quite a bit.  Another neat thing

was that they gave Paige some fruit flavored chap-stick to rub on the inside of

her mask so that the " funny " air that they used to put her to sleep wouldn't

smell so medicine-like.

>  

> I also bought a play doctor kit and picked up some real latex gloves and mask

so that we could play doctor and bascially act out what she would encounter on

her surgery day.  Anything you can do to make Molly feel a little bit in

control of the situation is great.  Books are a great suggestion too!

>  

> Also, another idea for after her surgery (in case she has additional

surgeries) is to make a photo album of everything.  I took pictures of Paige

with her nurses and doctors as well as Paige in the car on the way there, in

the waiting room, recovery after surgery, etc.  It really helped Paige to

process and remember her doctor and all of the people who helped her to be able

to see better.  I did it all online using Kodak and I was able to put captions

under the pictures to make it really nice for her.  I also used it again this

year in Paige's kindergarten class as a way of explaining BPES and why Paige's

eyes looked a little bit diffrent.  Paige had been getting some questions from

her classmates so the teacher allowed me to come in to speak to the class. 

Paige was so proud to share her photo album.

>  

> I hope some of the things I did inspire you.  Explaining it all can be

overwhelming to another adult so it's even more so with a 3 year old!  Best of

luck and I know she will do great!

>  

>

> North Carolina, USA

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> From: wendy673755 <haribo.molly@ btinternet. com>

> blepharophimosis

> Sent: Sat, January 2, 2010 4:31:20 PM

> Subject: blepharophimosis my daughter

>

>  

>

> my daughter molly is having the slings putting in on the 18th jan im a little

worried about it as its her 1st op and i dont know how to tell molly whats

happening as she is only 3, any ideas would be helpfull, also i had another baby

girl phoebe 7 weeks ago i was a little worried that she would have bpes but she

has not..

>

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